BCR-ABL Genes involved in cancer caused by t(9;22) CML Cancer caused by t(9:22) EWS-FLI1 Genes involved in cancer caused by t(11;22) Ewing sarcoma Cancer caused by translocations involving 22q12 HER2(ERBB2) - 17q21.1 Rec
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BCR-ABL Genes involved in cancer caused by t(9;22) CML Cancer caused by t(9:22) EWS-FLI1 Genes involved in cancer caused by t(11;22) Ewing sarcoma Cancer caused by translocations involving 22q12 HER2(ERBB2) - 17q21.1 Receptor tyrosine kinase commonly overexpressed in breast cancer IHC, rtPCR, FISH Methods used to assess overexpression of common oncogenes KRAS Most common oncogene in human cancer, which activates MAPK pathway t(11,22)(q24,q12) Most common translocation in 85% of Ewing's sarcoma Synovial sarcoma 80% of this type of cancer is caused by t(X;18) FKHR (FOXO1A) Gene on chromosome 13 that is involved in translocations in rhabdomyosarcoma TP53 Inherited mutations in this gene cause Li-Fraumeni syndrome ATM Gene mutated in Ataxia Telangiectasia BRCA1 Mutations in this gene increase lifetime risk of developing breast or ovarian cancer to 60-80% RET Point mutations in this gene cause multiple endocrine neoplasia RET Translocations involving this gene commonly cause papillary carcinoma VHL Alterations in this gene lead to a syndrome, which predisposes to renal cell carcinoma Colon cancer This type of cancer is associated with a defective mismatch repair system (MMR) Hereditary nonpolyposis colorectal cancer (HNPCC) aka Lynch syndrome MSI is often associated (90%) with this type of inherited cancer Five How many repeat loci are analyzed to determine MSI? High In MSI testing 2 of 5 loci must show instability to classify it to this degree (MSH-H or MSH-L) MSH2 and MLH1 Two gene associated with the cancer, HNPCC 0.5 and 2 A ratio of less than ____ and greater than ____ indicates of loss of heterozygosity (LOH) t(14;18) Common translocation in follicular lymphoma BCL2 This gene is often involved in translocations in follicular lymphoma t(9;22) This translocation is also known as the Philadelphia chromosome PML/RARA Two genes commonly translocated in acute promyelocytic leukemia t(15;17) Common translocation in acute promyelocytic leukemia Southern blot Lymphocyte clonality is detected by this method Monoclonal When over 1% of cells make the same gene rearrangement, the cell population is called ________. 6 The major histocompatability complex (MHC) is found on this chromosome HLA; human leukocyte antigens MHC gene products in humans are called __________. GVHD; graft versus host disease HLA or tissue typing prevents _____________. Set of alleles on the same chromosome and inherited together Haplotype Alterations shared in DNA by at least 2% of the population Polymorphism Different versions of a gene Allele HLA Typing Initial identification of HLA alleles in a specimen HLA Screening Detection of antihuman antibodies in serum that match known HLA alleles HLA Crossmatching Screen recipient sera for antibodies against potential donors HLA serological analysis Uses antigen-antibody recognition Complement-dependent cytotoxicity HLA typing test that uses anitbody panels Six A CDC score >___ is positive for HLA allele 50 Greater than ___% PRA (panel reactive antibodies) indicates a difficulty in finding a matched donor Recipient In CDC crossmatching the source of antibodies is from the ___________. Donor In CDC cossmatching the source of lymphocytes is from the __________. SSOP Sequence specific probe hybridization Low, intermdeiate The resolution of SSOP is ____ to ________. 3' In sequence specific PCR, the __' end of a PCR primer must be complementary to the the template Amplification In SSP-PCR for donor matching, _________ controls must be used. Yellow _________ colored ACD collection tubes are commonly used in molecular biology Acid citrate dextrose Make-up of ACD collection tubes Hemoglobin and anticoagulants ______________ and ____________ will interfere with molecular biology based tests Heparin Green and brown collection tubes contain _______ and should be avoided for molecular biology based tests Lavender Collection tubes containing EDTA are __________ in colored tops Viral Room temperature storage of whole blood is recommended for _______ RNA 24 Blood or bone marrow for RNA processing should occur within ______ hrs DNA Purified ______ can be stored for 1 year at 4 degrees [TP/(TP + FN)]*100 Formula for clinical sensitivity [(TN + TP)/(TN + TP + FN + FP)]*100 Formula for clinical specificity Ability of test result to predict clinical condition Clinical sensitivity
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